title: Identification of D179H, a novel missense GJB2 mutation in a western Sicily family.
abstract: The main purpose of this study was to describe a novel missense mutation (p.D179H) found in a Western Sicily family and to examine the genetic and audiologic profiles of all family members by performing a GJB2 and GJB6 mutations analysis and a complete audiologic assessment. The proband was a 3-month-old infant with a congenital profound sensorineural hearing loss; direct sequencing of the GJB2 revealed the presence of a c.35delG mutation in the heterozygous state and a heterozygous G>C transition at nucleotide 535 in trans; this novel mutation, called p.D179H, resulted in an aspartic acid to histidine change at codon 179. It was also evidenced in the heterozygous state in two members of this family, both with normal hearing. No GJB6 mutations were evidenced in all subjects studied. Considering the genotypic and phenotypic analysis of all family members, we suggest, differently from the p.D179 N mutation previously reported, a recessive mode of inheritance. Functional studies on p.D179H have to be performed to confirm our hypothesis.
authors.affiliation: Laboratorio di Genetica Molecolare, Ospedali Riuniti 'Villa Sofia-V. Cervello', Via Trabucco, 90100, Palermo, Italy.
authors.forename: Caterina
authors.initials: C
authors.lastname: Bartolotta
authors.forename: Pietro
authors.initials: P
authors.lastname: Salvago
authors.forename: Salvatore
authors.initials: S
authors.lastname: Cocuzza
authors.forename: Carmelo
authors.initials: C
authors.lastname: Fabiano
authors.forename: Pietro
authors.initials: P
authors.lastname: Sammarco
authors.forename: Francesco
authors.initials: F
authors.lastname: Martines
mesh_terms: D000328:Adult; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005190:Family; D005808:Genes, Recessive; D005838:Genotype; D006319:Hearing Loss, Sensorineural / Q000151:congenital / Q000235:genetics*; D006801:Humans; D007223:Infant; D020125:Mutation, Missense; D010375:Pedigree; D012720:Severity of Illness Index; D012802:Sicily
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26